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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1990 1
1991 1
1993 1
1995 1
1996 3
1997 3
1998 4
1999 1
2000 3
2001 4
2002 2
2003 1
2004 2
2005 2
2006 1
2007 2
2008 1
2009 4
2010 7
2011 4
2012 3
2013 4
2014 4
2015 1
2016 1
2017 1
2018 1
2021 2
2022 0
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57 results
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Page 1
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: de almeida it. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
[Branched chain amino acid diseases].
Cabral A, Portela R, Tasso T, Eusébio F, De Almeida IT, Silveira C. Cabral A, et al. Among authors: de almeida it. Acta Med Port. 1998 Jul;11(7):659-65. Acta Med Port. 1998. PMID: 9859514 Free article. Review. Portuguese.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B. Brasil S, et al. Among authors: de almeida it. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. Orphanet J Rare Dis. 2018. PMID: 30041674 Free PMC article.
57 results